OpenURL Connection Search

Select item for more details and to access through your institution.

Neuromuscular imaging in inherited muscle diseases.
Published in:
2010
By:
- Wattjes MP;
- Kley RA;
- Fischer D;
- Wattjes, Mike P;
- Kley, Rudolf A;
- Fischer, Dirk
Publication type:
journal article
Mitochondrial abnormalities in myofibrillar myopathies.
Published in:
Clinical Neuropathology, 2014, v. 33, n. 2, p. 134, doi. 10.5414/NP300693
By:
- Joshi, Pushpa R.;
- Hauburger, Anja;
- Kley, Rudolf;
- Claeys, Kristl G.;
- Schneider, Ilka;
- Kress, Wolfram;
- Stoltenburg, Gisela;
- Weis, Joachim;
- Vorgerd, Matthias;
- Deschauer, Marcus;
- Hanisch, Frank
Publication type:
Article
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 121, doi. 10.1186/s13023-014-0121-9
By:
- Semmler, Anna-Lena;
- Sacconi, Sabrina;
- Bach, J Elisa;
- Liebe, Claus;
- Bürmann, Jan;
- Kley, Rudolf A;
- Ferbert, Andreas;
- Anderheiden, Roland;
- Van den Bergh, Peter;
- Martin, Jean-Jacques;
- De Jonghe, Peter;
- Neuen-Jacob, Eva;
- Müller, Oliver;
- Deschauer, Marcus;
- Bergmann, Markus;
- Schröder, J Michael;
- Vorgerd, Matthias;
- Schulz, Jörg B;
- Weis, Joachim;
- Kress, Wolfram
Publication type:
Article
Diffusion tensor imaging reveals changes in non-fat infiltrated muscles in late onset Pompe disease.
Published in:
2020
By:
- Rehmann, Robert;
- Froeling, Martijn;
- Rohm, Marlena;
- Forsting, Johannes;
- Kley, Rudolf André;
- Schmidt‐Wilcke, Tobias;
- Karabul, Nesrin;
- Meyer‐Frießem, Christine H.;
- Vollert, Jan;
- Tegenthoff, Martin;
- Vorgerd, Matthias;
- Schlaffke, Lara;
- Schmidt-Wilcke, Tobias;
- Meyer-Frießem, Christine H
Publication type:
journal article
Chaperones in sporadic inclusion body myositis-Validation of proteomic data.
Published in:
2020
By:
- Güttsches, Anne‐Katrin;
- Jacobsen, Frank;
- Schreiner, Anja;
- Mertens‐Rill, Janine;
- Tegenthoff, Martin;
- Marcus, Katrin;
- Vorgerd, Matthias;
- Kley, Rudolf A.;
- Güttsches, Anne-Katrin;
- Mertens-Rill, Janine
Publication type:
journal article
Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis.
Published in:
2015
By:
- Tasca, Giorgio;
- Monforte, Mauro;
- De Fino, Chiara;
- Kley, Rudolf A.;
- Ricci, Enzo;
- Mirabella, Massimiliano
Publication type:
journal article
Central mechanisms during fatiguing muscle exercise in muscular dystrophy and fibromyalgia syndrome: A study with transcranial magnetic stimulation.
Published in:
Muscle & Nerve, 2011, v. 43, n. 4, p. 479, doi. 10.1002/mus.21920
By:
- Schwenkreis, Peter;
- Voigt, Michael;
- Hasenbring, Monika;
- Tegenthoff, Martin;
- Vorgerd, Matthias;
- Kley, Rudolf A.
Publication type:
Article
Diffusion tensor imaging of the human calf: Variation of inter- and intramuscle-specific diffusion parameters.
Published in:
2017
By:
- Schlaffke, Lara;
- Rehmann, Robert;
- Froeling, Martijn;
- Kley, Rudolf;
- Tegenthoff, Martin;
- Vorgerd, Matthias;
- Schmidt‐Wilcke, Tobias;
- Schmidt-Wilcke, Tobias
Publication type:
journal article
A metastable subproteome underlies inclusion formation in muscle proteinopathies.
Published in:
Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0853-9
By:
- Ciryam, Prajwal;
- Antalek, Matthew;
- Cid, Fernando;
- Tartaglia, Gian Gaetano;
- Dobson, Christopher M.;
- Guettsches, Anne-Katrin;
- Eggers, Britta;
- Vorgerd, Matthias;
- Marcus, Katrin;
- Kley, Rudolf A.;
- Morimoto, Richard I.;
- Vendruscolo, Michele;
- Weihl, Conrad C.
Publication type:
Article
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.
Published in:
Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0474-0
By:
- Unger, Andreas;
- Beckendorf, Lisa;
- Böhme, Pierre;
- Kley, Rudolf;
- Frieling-Salewsky, Marion von;
- Lochmüller, Hanns;
- Schröder, Rolf;
- Fürst, Dieter O.;
- Vorgerd, Matthias;
- Linke, Wolfgang A.
Publication type:
Article
Target formation in muscle fibres indicates reinnervation -- A proteomic study in muscle samples from peripheral neuropathies.
Published in:
Neuropathology & Applied Neurobiology, 2023, v. 49, n. 1, p. 1, doi. 10.1111/nan.12853
By:
- Krause, Karsten;
- Eggers, Britta;
- Uszkoreit, Julian;
- Eulitz, Stefan;
- Rehmann, Robert;
- Güttsches, Anne K.;
- Schreiner, Anja;
- van der Ven, Peter F. M.;
- Fürst, Dieter O.;
- Marcus, Katrin;
- Vorgerd, Matthias;
- Kley, Rudolf A.
Publication type:
Article
Th2- M2 immunity in lesions of muscular sarcoidosis and macrophagic myofasciitis.
Published in:
Neuropathology & Applied Neurobiology, 2015, v. 41, n. 7, p. 952, doi. 10.1111/nan.12231
By:
- Preusse, Corinna;
- Goebel, Hans‐H.;
- Pehl, Debora;
- Rinnenthal, Jan L.;
- Kley, Rudolf A.;
- Allenbach, Yves;
- Heppner, Frank L.;
- Vorgerd, Matthias;
- Authier, François Jerôme;
- Gherardi, Romain;
- Stenzel, Werner
Publication type:
Article
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 9, p. 2642, doi. 10.1093/brain/aws200
By:
- Kley, Rudolf A.;
- Serdaroglu-Oflazer, Piraye;
- Leber, Yvonne;
- Odgerel, Zagaa;
- van der Ven, Peter F. M.;
- Olivé, Montse;
- Ferrer, Isidro;
- Onipe, Adekunle;
- Mihaylov, Mariya;
- Bilbao, Juan M.;
- Lee, Hee S.;
- Höhfeld, Jörg;
- Djinović-Carugo, Kristina;
- Kong, Kester;
- Tegenthoff, Martin;
- Peters, Sören A.;
- Stenzel, Werner;
- Vorgerd, Matthias;
- Goldfarb, Lev G.;
- Fürst, Dieter O.
Publication type:
Article
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 12, p. 3250, doi. 10.1093/brain/awm271
By:
- Rudolf A. Kley;
- Yorck Hellenbroich;
- Peter F. M. van der Ven;
- Dieter O. Fürst;
- Angela Huebner;
- Vera Bruchertseifer;
- Sören A. Peters;
- Christoph M. Heyer;
- Janbernd Kirschner;
- Rolf Schröder;
- Dirk Fischer;
- Klaus Müller;
- Karen Tolksdorf;
- Katharina Eger;
- Alfried Germing;
- Turgut Brodherr;
- Conny Reum;
- Maggie C. Walter;
- Hanns Lochmüller;
- Uwe-Peter Ketelsen
Publication type:
Article
Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.
Published in:
2017
By:
- Güttsches, Anne‐Katrin;
- Brady, Stefen;
- Krause, Kathryn;
- Maerkens, Alexandra;
- Uszkoreit, Julian;
- Eisenacher, Martin;
- Schreiner, Anja;
- Galozzi, Sara;
- Mertens‐Rill, Janine;
- Tegenthoff, Martin;
- Holton, Janice L.;
- Harms, Matthew B.;
- Lloyd, Thomas E.;
- Vorgerd, Matthias;
- Weihl, Conrad C.;
- Marcus, Katrin;
- Kley, Rudolf A.
Publication type:
journal article
Myofibrillar instability exacerbated by acute exercise in filaminopathy.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 25, p. 7207, doi. 10.1093/hmg/ddv421
By:
- Chevessier, Frédéric;
- Schuld, Julia;
- Orfanos, Zacharias;
- Plank, Anne-C.;
- Wolf, Lucie;
- Maerkens, Alexandra;
- Unger, Andreas;
- Schrehard, Ursula Schlötzer;
- Kley, Rudolf A.;
- Von Hörsten, Stephan;
- Marcus, Katrin;
- Linke, Wolfgang A.;
- Vorgerd, Matthias;
- van der Ven, Peter F. M.;
- Fürst, Dieter O.;
- Schröder, Rolf
Publication type:
Article
ATOH8: a novel marker in human muscle fiber regeneration.
Published in:
Histochemistry & Cell Biology, 2015, v. 143, n. 5, p. 443, doi. 10.1007/s00418-014-1299-6
By:
- Güttsches, Anne-K.;
- Balakrishnan-Renuka, Ajeesh;
- Kley, Rudolf;
- Tegenthoff, Martin;
- Brand-Saberi, Beate;
- Vorgerd, Matthias
Publication type:
Article
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.
Published in:
Acta Neuropathologica, 2020, v. 140, n. 2, p. 231, doi. 10.1007/s00401-020-02164-4
By:
- Ruggieri, Alessandra;
- Naumenko, Sergey;
- Smith, Martin A.;
- Iannibelli, Eliana;
- Blasevich, Flavia;
- Bragato, Cinzia;
- Gibertini, Sara;
- Barton, Kirston;
- Vorgerd, Matthias;
- Marcus, Katrin;
- Wang, Peixiang;
- Maggi, Lorenzo;
- Mantegazza, Renato;
- Dowling, James J.;
- Kley, Rudolf A.;
- Mora, Marina;
- Minassian, Berge A.
Publication type:
Article
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.
Published in:
Acta Neuropathologica, 2016, v. 132, n. 3, p. 453, doi. 10.1007/s00401-016-1592-7
By:
- Winter, Lilli;
- Wittig, Ilka;
- Peeva, Viktoriya;
- Eggers, Britta;
- Heidler, Juliana;
- Chevessier, Frederic;
- Kley, Rudolf;
- Barkovits, Katalin;
- Strecker, Valentina;
- Berwanger, Carolin;
- Herrmann, Harald;
- Marcus, Katrin;
- Kornblum, Cornelia;
- Kunz, Wolfram;
- Schröder, Rolf;
- Clemen, Christoph
Publication type:
Article
Filamin C-related myopathies: pathology and mechanisms.
Published in:
Acta Neuropathologica, 2013, v. 125, n. 1, p. 33, doi. 10.1007/s00401-012-1054-9
By:
- Fürst, Dieter O.;
- Goldfarb, Lev G.;
- Kley, Rudolf A.;
- Vorgerd, Matthias;
- Olivé, Montse;
- van der Ven, Peter F. M.
Publication type:
Article
The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 11, p. 1351, doi. 10.1093/hmg/ddm085
By:
- Löwe, Thomas;
- Kley, Rudolf A.;
- van der Ven, Peter F.M.;
- Himmel, Mirko;
- Huebner, Angela;
- Vorgerd, Matthias;
- Fürst, Dieter O.
Publication type:
Article
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 10, p. 1251, doi. 10.1093/hmg/ddi136
By:
- Bär, Harald;
- Fischer, Dirk;
- Goudeau, Bertrand;
- Kley, Rudolf A.;
- Clemen, Christoph S.;
- Vicart, Patrick;
- Herrmann, Harald;
- Vorgerd, Matthias;
- Schröder, Rolf
Publication type:
Article
Human β-defensin-3 correlates with muscle fibre degeneration in idiopathic inflammatory myopathies.
Published in:
Innate Immunity, 2014, v. 20, n. 1, p. 49, doi. 10.1177/1753425913481820
By:
- Güttsches, Anne-Katrin;
- Jacobsen, Frank;
- Theiss, Carsten;
- Rittig, Andrea;
- Rehimi, Rizwan;
- Kley, Rudolf A;
- Vorgerd, Matthias;
- Steinstraesser, Lars
Publication type:
Article

Found: 23